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Considering the names of all three researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome. [57] In 1956, Klinefelter syndrome was found to result from an extra chromosome. [58] Plunkett and Barr found the sex chromatin body in cell nuclei of the body.
Serpentine fibula-polycystic kidney syndrome; Sertoli cell-only syndrome; Serum sickness–like reaction; Setleis syndrome; Severe acute respiratory syndrome; Shaken baby syndrome; Shapiro syndrome; Sheehan's syndrome; Shell nail syndrome; Shone's syndrome; Short anagen syndrome; Short bowel syndrome; Short man syndrome; Short QT syndrome ...
Children with Zellweger Spectrum disorder can have hearing loss with onset during the first months following birth. [4] Infants with the disorder can also have abnormalities including their organs. They might have a large spleen or liver, as well as heart defects. Including holes in the heart, and high blood pressure.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females. [ 1 ] : 485 The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with ...
Griscelli syndrome is a rare autosomal recessive [1] disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms.
Most children with Chédiak–Higashi syndrome ultimately reach a stage known as the "accelerated phase", or the "lymphoma-like syndrome", in which defective white blood cells divide uncontrollably and invade many of the body's organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and ...
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Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. [1] It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies .